Tag: CLN1 gene

  • Spielmeyer-Vogt Disease

    Spielmeyer-Vogt Disease: Definition and Description of Spielmeyer-Vogt Disease: Spielmeyer-Vogt Disease, also known as neuronal ceroid lipofuscinosis type 1 (NCL1), is a rare inherited neurodegenerative disorder. It primarily affects children and is characterized by the progressive loss of vision, intellectual decline, and other neurological symptoms. The disease falls under the family of lysosomal storage diseases, where…

  • Spielmeyer-Vogt-Batten Syndrome

    Spielmeyer-Vogt-Batten Syndrome: Definition and Description of Spielmeyer-Vogt-Batten Syndrome: Spielmeyer-Vogt-Batten Syndrome, also known simply as Batten Disease, is a rare neurological disorder primarily affecting children. This condition belongs to a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of lipofuscin, a fatty substance, in the brain and other tissues.…